|OBO ID: DOID:0060762|
|Term Name:||lethal restrictive dermopathy||Search Ontology:|
|Definition:||A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. (2)|
|Ontology:||Human Disease (DOID:0060762)|
|is a type of:||
OTHER lethal restrictive dermopathy PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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